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NM_000314.8(PTEN):c.-812A>G AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 17, 2015
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000578633.1

Allele description [Variation Report for NM_000314.8(PTEN):c.-812A>G]

NM_000314.8(PTEN):c.-812A>G

Genes:
LOC130004273:ATAC-STARR-seq lymphoblastoid silent region 2585 [Gene]
PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.31
Genomic location:
Preferred name:
NM_000314.8(PTEN):c.-812A>G
HGVS:
  • NC_000010.11:g.87863658A>G
  • NG_007466.2:g.5221A>G
  • NG_033079.1:g.4780T>C
  • NM_000314.8:c.-812A>GMANE SELECT
  • NM_001304717.5:c.-292A>G
  • NM_001304718.2:c.-1516A>G
  • LRG_311t1:c.-811A>G
  • LRG_1087:g.4780T>C
  • LRG_311:g.5221A>G
  • NC_000010.10:g.89623415A>G
  • NM_000314.4:c.-811A>G
Links:
dbSNP: rs1554889993
NCBI 1000 Genomes Browser:
rs1554889993
Molecular consequence:
  • NM_000314.8:c.-812A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001304717.5:c.-292A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001304718.2:c.-1516A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000680616GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Apr 17, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000680616.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is denoted PTEN c.-812A>G, and describes a nucleotide substitution 812 base pairs upstream of the ATG translational start site in the PTEN core promoter region. The surrounding sequence, with the base that is substituted in braces, is ATGG[A/G]AGTT. This variant, also called c.-811A>G using alternate numbering, has not been published in the literature to our knowledge. This variant occurs within a region of the PTEN promoter (c.-798 to c.-1238) in which variants have been observed in individuals with features of Cowden syndrome (Zhou 2003). Based on currently available information, it is unclear whether PTEN c.-812A>G is pathogenic or benign. We consider it to be a variant of uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 14, 2023